The DOI matches its Crossref record; 216 of the 216 references it cites were found in a registry or an index.
Causes of Genome Instability
Abstract
Genomes are transmitted faithfully from dividing cells to their offspring. Changes that occur during DNA repair, chromosome duplication, and transmission or via recombination provide a natural source of genetic variation. They occur at low frequency because of the intrinsic variable nature of genomes, which we refer to as genome instability. However, genome instability can be enhanced by exposure to external genotoxic agents or as the result of cellular pathologies. We review the causes of genome instability as well as how it results in hyper-recombination, genome rearrangements, and chromosome fragmentation and loss, which are mainly mediated by double-strand breaks or single-strand gaps. Such events are primarily associated with defects in DNA replication and the DNA damage response, and show high incidence at repetitive DNA, non-B DNA structures, DNA-protein barriers, and highly transcribed regions. Identifying the causes of genome instability is crucial to understanding genome dynamics during cell proliferation and its role in cancer, aging, and a number of rare genetic diseases.
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“Persistent DSBs are drivers of genomic instability”
From Neuronal DNA double-strand breaks lead to genome structural variations and 3D genome disruption in neurodegeneration (2023) · cites this paper as [16]
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Heterochromatin: Guardian of the Genome
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BackgroundLong Neural Genes Harbor Recurrent DNA Break Clusters in Neural Stem/Progenitor Cells
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Metadata
- Authors
- Aguilera, A., & García-Muse, T.
- Affiliations
- Centro Andaluz de Biología Molecular y Medicina Regenerativa (ES)
- Centro Andaluz de Biología Molecular y Medicina Regenerativa (CABIMER), Universidad de Sevilla, 41092 Seville, Spain;
- ORCID
- Aguilera, Andrés
- Venue
- Annual Review of Genetics
- Publisher
- Annual Reviews
- Published
- 2013-11-23
- Volume
- 47
- Issue
- 1
- Pages
- 1-32
- ISSN
- 0066-4197 (ISSN-L)
- 1545-2948
- OpenAlex
- W2142125232
- Cited by
- 476
- References
- 216
- Citations by year
- 2026: 25 · 2025: 25 · 2024: 30 · 2023: 25 · 2022: 28 · 2021: 50 · 2020: 43 · 2019: 43 · 2018: 40 · 2017: 36 · 2016: 43 · 2015: 45 · 2014: 40 · 2013: 3
- FWCI
- 4.11
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Annual Review of Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Ministerio de Economía y Competitividad
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Carcinogens and Genotoxicity Assessment
- Keywords
- genomic instability, DNA repair, chromosome duplication, recombination, hyper-recombination, genome rearrangement, chromosome fragmentation, chromosome loss, DNA double-strand breaks, DNA replication defects, DNA damage response, repetitive DNA, non-B DNA structures, transcribed regions, cancer, aging, genetic disorders
- MeSH terms
- Aging, Animals, DNA Damage, DNA Repair, DNA Replication, DNA, Neoplasm, Eukaryotic Cells, Humans, Mammals, Models, Genetic, Mutation, Neoplasms, Nucleic Acid Conformation, Recombination, Genetic, Repetitive Sequences, Nucleic Acid, Transcription, Genetic, Yeasts, S Phase, Oxidative Stress, Genomic Instability, Chromosome Fragile Sites, Cell Cycle Checkpoints
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